Canonical Allele Identifier: CA397952566
Gene: GUCY2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012577A>T , CM000679.2:g.8012577A>T GRCh38
NC_000017.10:g.7915895A>T , CM000679.1:g.7915895A>T GRCh37
NC_000017.9:g.7856620A>T NCBI36
NG_009092.1:g.14908A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2084A>T MANE Select ENSP00000254854.4:p.Lys695Met
ENST00000254854.4:c.2084A>T ENSP00000254854.4:p.Lys695Met
NM_000180.3:c.2084A>T NP_000171.1:p.Lys695Met
XM_011523816.1:c.2084A>T XP_011522118.1:p.Lys695Met
NM_000180.4:c.2084A>T MANE Select NP_000171.1:p.Lys695Met